A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065082



Internal ID21502492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27947479..27947562hg38UCSC Ensembl
chr1:28273990..28274073hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5566835
Supporting Variants
SamplesNA19239
Known GenesSMPDL3B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065082
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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